PRPH2 and central areolar choroidal dystrophy: In the RF.K.0216 pedigree (Fig 4G) from India, two previously known dominant mutations, one in PRPH2 (c.424C>T, p.Arg142Trp) [61, 64, 70] and another in ROM1 (c.339dupG, p.Leu114Alafs*9) [65, 71] were observed in a patient with a diagnosis of central areolar choroidal dystrophy (CACD) with onset in the 5th decade and mild central vision loss consistent with the phenotype associated with the p.Arg142Trp mutation in PRPH2 [72].